ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.154G>A (p.Val52Met)

dbSNP: rs2151146745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023018 SCV002305812 uncertain significance Bloom syndrome 2022-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1512424). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 52 of the BLM protein (p.Val52Met).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478923 SCV004222435 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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